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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5873842copy number variation1nstd209human GRCh38 chr1: 115,691,217-115,745,167 , GRCh37.p13 chr1: 116,233,838-116,287,788 CASQ2, VANGL1
    nsv5827819copy number variation1nstd209human GRCh38 chr1: 115,691,175-115,717,867 , GRCh37.p13 chr1: 116,233,796-116,260,488 CASQ2, VANGL1
    nsv5618104insertion1nstd207human GRCh38 chr1: 115,761,439-115,761,439 , GRCh37.p13 chr1: 116,304,060-116,304,060 CASQ2
    nsv5608250insertion1nstd207human GRCh38 chr1: 115,761,652-115,761,652 , GRCh37.p13 chr1: 116,304,273-116,304,273 CASQ2
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5217941mobile element deletion1nstd204human GRCh38.p13 chr1: 115,701,915-115,702,229 , GRCh37.p13 chr1: 116,244,536-116,244,850 CASQ2
    nsv5060300mobile element insertion1nstd203human GRCh38 chr1: 115,698,544-115,698,554 , GRCh37.p13 chr1: 116,241,165-116,241,175 CASQ2, VANGL1
    nsv4894446copy number variation1nstd200human GRCh38 chr1: 115,691,217-115,745,168 , GRCh37.p13 chr1: 116,233,838-116,287,789 CASQ2, VANGL1
    nsv4890921copy number variation1nstd200human GRCh38 chr1: 115,721,532-115,721,694 , GRCh37.p13 chr1: 116,264,153-116,264,315 CASQ2
    nsv4781148copy number variation1nstd200human GRCh37 chr1: 116,233,838-116,287,789 , GRCh38.p12 chr1: 115,691,217-115,745,168 CASQ2, VANGL1
    nsv4781147copy number variation1nstd200human GRCh37 chr1: 116,138,743-116,350,412 , GRCh38.p12 chr1: 115,596,122-115,807,791 RN7SL420P, VANGL1, 1 more genes
    nsv4781146copy number variation1nstd200human GRCh37 chr1: 116,138,692-116,348,853 , GRCh38.p12 chr1: 115,596,071-115,806,232 CASQ2, VANGL1, 1 more genes
    nsv4773793copy number variation1nstd200human GRCh37 chr1: 116,264,153-116,264,315 , GRCh38.p12 chr1: 115,721,532-115,721,694 CASQ2
    nsv4773792mobile element deletion1nstd200human GRCh37 chr1: 116,244,545-116,244,842 , GRCh38.p12 chr1: 115,701,924-115,702,221 CASQ2
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4755116insertion1nstd199human GRCh37 chr1: 116,304,022-116,304,022 , GRCh38.p12 chr1: 115,761,401-115,761,401 CASQ2
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4682840copy number variation1nstd102humanUncertain significance GRCh37 chr1: 116,243,852-116,287,543 , GRCh38.p12 chr1: 115,701,231-115,744,922 CASQ2
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